Your browser does not fully support modern features. Please upgrade for a smoother experience.
Submitted Successfully!
Thank you for your contribution! You can also upload a video entry or images related to this topic. For video creation, please contact our Academic Video Service.
Version Summary Created by Modification Content Size Created at Operation
1 Camila Xu + 737 word(s) 737 2020-12-15 07:28:47

Video Upload Options

We provide professional Academic Video Service to translate complex research into visually appealing presentations. Would you like to try it?
No, upload directly Yes
Cite
If you have any further questions, please contact Encyclopedia Editorial Office.
Xu, C. Keratitis-Ichthyosis-Deafness Syndrome. Encyclopedia. Available online: https://encyclopedia.pub/entry/4412 (accessed on 29 September 2026).
Xu C. Keratitis-Ichthyosis-Deafness Syndrome. Encyclopedia. Available at: https://encyclopedia.pub/entry/4412. Accessed September 29, 2026.
Xu, Camila. "Keratitis-Ichthyosis-Deafness Syndrome" Encyclopedia, https://encyclopedia.pub/entry/4412 (accessed September 29, 2026).
Xu, C. (2020, December 23). Keratitis-Ichthyosis-Deafness Syndrome. In Encyclopedia. https://encyclopedia.pub/entry/4412
Xu, Camila. "Keratitis-Ichthyosis-Deafness Syndrome." Encyclopedia. Web. 23 December, 2020.
Keratitis-Ichthyosis-Deafness Syndrome
Edit
This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/keratitis-ichthyosis-deafness-syndrome

Keratitis-ichthyosis-deafness (KID) syndrome is characterized by eye problems, skin abnormalities, and hearing loss.

genetic conditions

References

  1. Lee JR, White TW. Connexin-26 mutations in deafness and skin disease. ExpertRev Mol Med. 2009 Nov 19;11:e35. doi: 10.1017/S1462399409001276. Review.
  2. Mazereeuw-Hautier J, Bitoun E, Chevrant-Breton J, Man SY, Bodemer C, Prins C, Antille C, Saurat JH, Atherton D, Harper JI, Kelsell DP, Hovnanian A.Keratitis-ichthyosis-deafness syndrome: disease expression and spectrum ofconnexin 26 (GJB2) mutations in 14 patients. Br J Dermatol. 2007May;156(5):1015-9.
  3. Richard G, Rouan F, Willoughby CE, Brown N, Chung P, Ryynänen M, Jabs EW, BaleSJ, DiGiovanna JJ, Uitto J, Russell L. Missense mutations in GJB2 encodingconnexin-26 cause the ectodermal dysplasia keratitis-ichthyosis-deafnesssyndrome. Am J Hum Genet. 2002 May;70(5):1341-8.
  4. van Steensel MA. Gap junction diseases of the skin. Am J Med Genet C Semin MedGenet. 2004 Nov 15;131C(1):12-9. Review. Erratum in: Am J Med Genet C Semin MedGenet. 2006 Feb 15;142(1):58.
  5. Xu J, Nicholson BJ. The role of connexins in ear and skin physiology -functional insights from disease-associated mutations. Biochim Biophys Acta. 2013Jan;1828(1):167-78. doi: 10.1016/j.bbamem.2012.06.024.
More
©Text is available under the terms and conditions of the Creative Commons-Attribution ShareAlike (CC BY-SA) license; additional terms may apply. By using this site, you agree to the Terms and Conditions and Privacy Policy.
Upload a video for this entry
Information
Subjects: Genetics & Heredity
Contributor MDPI registered users' name will be linked to their SciProfiles pages. To register with us, please refer to https://encyclopedia.pub/register : Camila Xu
View Times: 682
Entry Collection: MedlinePlus
Revision: 1 time (View History)
Update Date: 23 Dec 2020
Table of Contents
    Notice
    You are not a member of the advisory board for this topic. If you want to update advisory board member profile, please contact office@encyclopedia.pub.
    OK
    Confirm
    Only members of the Encyclopedia advisory board for this topic are allowed to note entries. Would you like to become an advisory board member of the Encyclopedia?
    Yes
    No
    ${ textCharacter }/${ maxCharacter }
    Submit
    Cancel
    There is no comment~
    ${ textCharacter }/${ maxCharacter }
    Submit
    Cancel
    ${ selectedItem.replyTextCharacter }/${ selectedItem.replyMaxCharacter }
    Submit
    Cancel
    Confirm
    Are you sure to Delete?
    Yes No
    Academic Video Service
    Feedback